Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population

European Journal of Human Genetics

Volumn 11, Issue 11, 2003, Pages 845-850

  Beekman, Marian ^a   Heijmans, Bastiaan T ^a   Martin, Nicholas G ^b   Whitfield, John B ^c   Pedersen, Nancy L ^d   DeFaire, Ulf ^d   Snieder, Harold ^e,f   Lakenberg, Nico ^a   Suchiman, H Eka D ^a   de Knijff, Peter ^a   Frants, Rune R ^a   van Ommen, Gert Jan B ^a   Kluft, Cornelis ^g   Vogler, George P ^h   Boomsma, Dorret I ⁱ   Slagboom, P Eline ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^d KAROLINSKA INSTITUTE   (Sweden)

^e ST THOMAS HOSPITAL   (United Kingdom)

^f MEDICAL COLLEGE OF GEORGIA   (United States)

^g TNO   (Netherlands)

^h PENNSYLVANIA STATE UNIVERSITY   (United States)

ⁱ VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

Cardiovascular risk factors; Linkage; Quantitative trait locus (QTL); Twin pairs

Indexed keywords

APOLIPOPROTEIN; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; AGED; ARTICLE; AUSTRALIA; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CAUCASIAN; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 19; CONTROLLED STUDY; DIZYGOTIC TWINS; FEMALE; GENETIC CORRELATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; LIPID BLOOD LEVEL; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; QUANTITATIVE TRAIT LOCUS; RISK FACTOR; SCORING SYSTEM; SWEDEN; TANDEM REPEAT;

ADOLESCENT; ADULT; AGED; CARDIOVASCULAR DISEASES; CHOLESTEROL, LDL; CHROMOSOMES, HUMAN, PAIR 19; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETICS, POPULATION; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; PHENOTYPE; QUANTITATIVE TRAIT LOCI; TWINS, DIZYGOTIC; VARIATION (GENETICS);

EID: 10744232335     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201053     Document Type: Article

References (43)

1. Vogler GP, McClearn GE, Snieder H et al: Genetics and behavioral medicine: risk factors for cardiovascular disease. Behav Med 1997; 22: 141-149.
2. Hobbs HH, Brown MS, Goldstein JL: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445-466.
3. Hansen PS: Familial defective apolipoprotein B-100. Dan Med Bull 1998; 45: 370-382.
4. Brooks-Wilson A, Marcil M, Clee SM et al: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999; 22: 336-345.
5. Williams RR, Hopkins PN, Hunt SC et al: Population-based frequency of dyslipidemia syndromes in coronary-prone families in Utah. Arch Intern Med 1990; 150: 582-588.
6. Hamsten A, Iselius L, Dahlen G, de Faire U: Genetic and cultural inheritance of serum lipids, low and high density lipoprotein cholesterol and serum apolipoproteins A-I, A-II and B. Atherosclerosis 1986; 60: 199-208.
7. Beekman M, Heijmans BT, Martin NG et al: Heritabilities of apolipoprotein and lipid levels in three countries. Twin Res 2002; 5: 87-97.
8. Friedlander Y, Leitersdorf E: Influence of apolipoprotein E genotypes on plasma lipid and lipoprotein concentrations: results from a segregation analysis in pedigrees with molecularly defined familial hypercholesterolemia. Genet Epidemiol 1996; 13: 159-177.
9. Shachter NS: Apolipoproteins C-I and C-III as important modulators of lipoprotein metabolism. Curr Opin Lipidol 2001; 12: 297-304.
10. Kamboh MI, Aston CE, Hamman RF: DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile. Atherosclerosis 2000; 152: 193-201.
11. Walton C, Lees B, Crook D, Godsland IF, Stevenson JC: Relationships between insulin metabolism, serum lipid profile, body fat distribution and blood pressure in healthy men. Atherosclerosis 1995; 118: 35-43.
12. Raclot T, Holm C, Langin D: A role for hormone-sensitive lipase in the selective mobilization of adipose tissue fatty acids. Biochim Biophys Acta 2001; 1532: 88-96.
13. Ishii H, Kim DH, Fujita T, Endo Y, Saeki S, Yamamoto TT: cDNA cloning of a new low-density lipoprotein receptor-related protein and mapping of its gene (LRP3) to chromosome bands 19q12-q13.2. Genomics 1998; 51: 132-135.
14. Imperatore G, Knowler WC, Pettitt DJ et al: A locus influencing total serum cholesterol on chromosome 19p: results from an autosomal genomic scan of serum lipid concentrations in Pima Indians. Arterioscler Thromb Vasc Biol 2000; 20: 2651-2656.
15. Ober C, Abney M, McPeek MS: The genetic dissection of complex traits in a founder population. Am J Hum Genet 2001; 69: 1068-1079.
16. Reed DR, Nanthakumar E, North M, Bell C, Price RA: A genome-wide scan suggests a locus on chromosome 1q21-q23 contributes to normal variation in plasma cholesterol concentration. J Mol Med 2001; 79: 262-269.
17. Aouizerat BE, Allayee H, Cantor RM et al: A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. Am J Hum Genet 1999; 65: 397-412.
18. Francke S, Manraj M, Lacquemant C et al: A genome-wide scan for coronary heart disease suggests in Indo-Mauritians a susceptibility locus on chromosome 16p13 and replicates linkage with the metabolic syndrome on 3q27. Hum Mol Genet 2001; 10: 2751-2765.
19. Broeckel U, Hengstenberg C, Mayer B et al: A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet 2002; 30: 210-214.
20. Elbein SC, Hasstedt SJ: Quantitative trait linkage analysis of lipid-related traits in familial type 2 diabetes: evidence for linkage of triglyceride levels to chromosome 19q. Diabetes 2002; 51: 528-535.
21. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: GRR: graphical representation of relationship errors. Bioinformatics 2001; 17: 742-743.
22. Friedewald WT, Levy RI, Fredrickson DS: Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972; 18: 499-502.
23. Rifai N, Warnick GR, McNamara JR, Belcher JD, Grinstead GF, Frantz ID: Measurement of low-density-lipoprotein cholesterol in serum: a status report. Clin Chem 1992; 38: 150-160.
24. Douglas JA, Boehnke M, Lange K: A multipoint method for detecting genotyping errors and mutations in sibling-pair linkage data. Am J Hum Genet 2000; 66: 1287-1297.
25. Broman KW: Estimation of allele frequencies with data on sibships. Genet Epidemiol 2001; 20: 307-315.
26. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
27. Neale MC, Boker SM, Xie G, Maes HH: Mx: Statistical modeling. Richmond, VA: Department of Psychiatry, Virginia Commonwealth University, 1999.
28. Neale MC: QTL Mapping with sib pairs: the flexibility of Mx; in Spector TD, Snieder H, MacGregor AJ (eds): Advances in twin and sib pair analysis. Greenwich Medical Media, London, 2000.
29. Vogler GP, Tang W, Nelson TL et al: A multivariate model for the analysis of sibship covariance structure using marker information and multiple quantitative traits. Genet Epidemiol 1997; 14: 921-926.
30. Snieder H, van Doornen LJ, Boomsma DI: The age dependency of gene expression for plasma lipids, lipoproteins, and apolipoproteins. Am J Hum Genet 1997; 60: 638-650.
31. Zerba KE, Ferrell RE, Sing CF: Complex adaptive systems and human health: the influence of common genotypes of the apolipoprotein E (ApoE) gene polymorphism and age on the relational order within a field of lipid metabolism traits. Hum Genet 2000; 107: 466-475.
32. Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247.
33. Rainwater DL, Almasy L, Blangero J et al: A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. Arterioscler Thromb Vasc Biol 1999; 19: 777-783.
34. Klos KL, Kardia SL, Ferrell RE, Turner ST, Boerwinkle E, Sing CF: Genome-wide linkage analysis reveals evidence of multiple regions that influence variation in plasma lipid and apolipoprotein levels associated with risk of coronary heart disease. Arterioscler Thromb Vasc Biol 2001; 21: 971-978.
35. Barton NH, Keightley PD: Understanding quantitative genetic variation. Nat Rev Genet 2002; 3: 11-21.
36. Steinmetz LM, Sinha H, Richards DR et al: Dissecting the architecture of a quantitative trait locus in yeast. Nature 2002; 416: 326-330.
37. Ludwig EH, Hopkins PN, Allen A et al: Association of genetic variations in apolipoprotein B with hypercholesterolemia, coronary artery disease, and receptor binding of low density lipoproteins. J Lipid Res 1997; 38: 1361-1373.
38. Pentikainen MO, Oksjoki R, Oorni K, Kovanen PT: Lipoprotein lipase in the arterial wall: linking LDL to the arterial extracellular matrix and much more. Arterioscler Thromb Vasc Biol 2002; 22: 211-217.
39. Shen Y, Lookene A, Nilsson S, Olivecrona G: Functional analyses of human apolipoprotein CII by site-directed mutagenesis: identification of residues important for activation of lipoprotein lipase. J Biol Chem 2002; 277: 4334-4342.
40. de Graaf J, Hoffer MJ, Stuyt PM, Frants RR, Stalenhoef AF: Familial chylomicronemia caused by a novel type of mutation in the APOE-CI-CIV-CII gene cluster encompassing both the APOCII gene and the first APOCIV gene mutation: APOCII-CIV (Nijmegen). Biochem Biophys Res Commun 2000; 273: 1084-1087.
41. Nishina PM, Johnson JP, Naggert JK, Krauss RM: Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. Proc Natl Acad Sci USA 1992; 89: 708-712.
42. Fulker DW, Cherny SS, Sham PC, Hewitt JK: Combined linkage and association sib-pair analysis for quantitative traits. Am J Hum Genet 1999; 64: 259-267.
43. Posthuma D, Geus EJC, Boomsma DI, Neal MC: Combined linkage and association in Mx. Behav Genet 2003; 153-174.